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中文人类
MTHFR - Methylenetetrahydrofolate Reductase
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这个基因编码的蛋白质催化5,10-甲烯四氢叶酸转化为5-甲基四氢叶酸，后者是同胱氨酸甲基化为蛋氨酸的辅因子。这个基因的遗传变异影响闭塞性血管病、神经管缺陷、结肠癌和急性白血病的易感性，这个基因的突变与甲烯四氢叶酸还原酶缺乏有关。[由RefSeq在2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MTHFR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
